Objective To analysis the clinical and gene mutation characteristics of hereditary fructose intolerance (HFI). Methods The clinical features and the results of gene testing in the child with HFI and her parents were analyzed retrospectively. Gene sequencing was carried out by high-throughput sequencing and validated by Sanger sequencing. Results The 4-year-3-month old girl had recurrent hypoglycemia episodes and growth retardation. When the condition was stable, the levels of lactic acid and urine micro protein were slightly higher, and the levels of thyroid hormone, cortisol, glycosylated hemoglobin, insulin and C peptide were normal.EEG showed epileptiform activity.Gene sequencing revealed the presence of aldolase B gene(ALDOB) compound heterozygous mutations, a novel splicing mutations (c.325-1G>A) in intron 3 and a frameshift mutation (c. 865delC;p.L289fs*10) in exon 8. Her father carries a frameshift mutation, and her mother carries a splicing mutation. Conclusion The diagnosis of HFI caused by ALDOB mutation can be confirmed by high-throughput sequencing technology.%目的 分析遗传性果糖不耐受症(HFI)的临床及基因突变特点.方法 回顾分析1例HFI患儿的临床特征以及患儿及其父母的基因检测结果.基因检测采用高通量测序方法,并以Sanger测序进行验证.结果 患儿,女,4岁3个月.表现为反复低血糖发作,明显生长落后.病情稳定时乳酸、尿微量蛋白稍高,甲状腺激素、皮质醇、糖化血红蛋白、胰岛素、C肽等无异常.脑电图示痫样活动.基因测序显示存在醛缩酶B基因(ALDOB)复合杂合突变,3号内含子发现剪切突变(c.325-1 G>A),8号外显子移码突变(c. 865 delC;p.L 289 fs*10);其父亲携带移码突变,母亲携带剪切突变.结论 通过高通量测序技术,可确诊由ALDOB突变致病的HFI.
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